Gene Symbol | PXDN |
Entrez Gene ID | 7837 |
Full Name | peroxidasin |
Synonyms | ASGD7,COPOA,D2S448,D2S448E,MG50,PRG2,PXN,VPO |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a heme-containing peroxidase that is secreted into the extracellular matrix. It is involved in extracellular matrix formation, and may function in the physiological and pathological fibrogenic response in fibrotic kidney. Mutations in this gene cause corneal opacification and other ocular anomalies, and also microphthalmia and anterior segment dysgenesis. [provided by RefSeq, Aug 2014]. |
Disorder MIM: | |
Disorder Html: | Anterior segment dysgenesis 7, with sclerocornea, 269400 (3) |